A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia
- Author(s)
- Corbett, MA; Schwake, M; Bahlo, M; Dibbens, LM; Lin, M; Gandolfo, LC; Vears, DF; O'Sullivan, JD; Robertson, T; Bayly, MA; Gardner, AE; Vlaar, AM; Korenke, GC; Bloem, BR; de Coo, IF; Verhagen, JMA; Lehesjoki, AE; Gecz, J; Berkovic, SF;
- Details
- Publication Year 2011-05-13,Volume 88,Issue #5,Page 657-663
- Journal Title
- AMERICAN JOURNAL OF HUMAN GENETICS
- Publication Type
- Journal Article
- Abstract
- The progressive myoclonus epilepsies (PMEs) are a group of predominantly recessive disorders that present with action myoclonus, tonic-clonic seizures, and progressive neurological decline. Many PMEs have similar clinical presentations yet are genetically heterogeneous, making accurate diagnosis difficult. A locus for PME was mapped in a consanguineous family with a single affected individual to chromosome 17q21. An identical-by-descent, homozygous mutation in GOSR2 (c.430G>T, p.Gly144Trp), a Golgi vesicle transport gene, was identified in this patient and in four apparently unrelated individuals. A comparison of the phenotypes in these patients defined a clinically distinct PME syndrome characterized by early-onset ataxia, action myoclonus by age 6, scoliosis, and mildly elevated serum creatine kinase. This p.Gly144Trp mutation is equivalent to a loss of function and results in failure of GOSR2 protein to localize to the cis-Golgi.
- Publisher
- CELL PRESS
- Keywords
- SACCHAROMYCES-CEREVISIAE; PROTEINS; ALIGNMENT; DELETION; COMPLEX; SYSTEM; GENOME; ER
- Publisher's Version
- https://doi.org/10.1016/j.ajhg.2011.04.011
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2011-05-13 12:00:00